Retinal manifestations of the neurocutaneous disorders.

PURPOSE OF REVIEW: The neurocutaneous disorders are a genetically and phenotypically diverse group of congenital syndromes characterized by cutaneous, ocular, and central nervous system manifestations. This review provides an overview of the clinical features and retinal findings in selected neurocutaneous disorders.

RECENT FINDINGS: Advances in genetics and diagnostic retinal and neuroimaging allow for the recognition of retinal features of common neurocutaneous syndromes and for improved characterization of rarer entities based on previously underdiagnosed or unrecognized retinal findings.

SUMMARY: Better characterization of the neurocutaneous disorders allows for earlier recognition and the potential for expeditious vision-saving and life-saving treatment.